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Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review
INTRODUCTION: The Chronic Infantile Neurological Cutaneous and Articular (CINCA, or Neonatal-onset multisystem inflammatory disease NOMID) is a rare autoinflammatory disease identified in 1987 by Prieur et al., typically characterized by the triad of skin rash, arthropathy and central nervous system...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2016
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142346/ https://www.ncbi.nlm.nih.gov/pubmed/27927236 http://dx.doi.org/10.1186/s13023-016-0542-8 |
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author | Finetti, Martina Omenetti, Alessia Federici, Silvia Caorsi, Roberta Gattorno, Marco |
author_facet | Finetti, Martina Omenetti, Alessia Federici, Silvia Caorsi, Roberta Gattorno, Marco |
author_sort | Finetti, Martina |
collection | PubMed |
description | INTRODUCTION: The Chronic Infantile Neurological Cutaneous and Articular (CINCA, or Neonatal-onset multisystem inflammatory disease NOMID) is a rare autoinflammatory disease identified in 1987 by Prieur et al., typically characterized by the triad of skin rash, arthropathy and central nervous system manifestations. It represents the most severe phenotype of the cryopyrin-associated periodic syndrome (CAPS). CLINICAL DESCRIPTION AND ETIOLOGY: The syndrome is due to autosomal dominant gain of function mutations in NLRP3, which encodes a key component of the innate immunity that regulates the activation and secretion of interleukin (IL)-1β. From the first days of life, patients display an urticarial rash in association with chronic inflammation with a typical facies featured by frontal bossing and saddle back nose. The CNS manifestations include chronic aseptic meningitis leading to brain atrophy, mental delay and sensorineural hearing loss. Chronic polyarthritis and alteration of the growth cartilage also may be present. CINCA/NOMID diagnosis is made clinically, based on the presence of characteristic features. The detection of NLRP3 mutations is diagnostic in 65–70% of cases. Indeed, up to 40% of affected patients are negative for germline NLRP3 mutations and several subjects are carriers of somatic mosaicism. Due to the pivotal role of Cryopyrin in the control of Caspase-1 activation and the massive secretion of active IL-1β observed in cryopyrin-mutated individuals, anti-IL1 treatment represents the standard therapy. CONCLUSION: Prognosis of CINCA/NOMID syndrome has been changed by the availability of anti-IL1 drugs. Nowadays, the use of anti-IL-1 drugs has sensibly reduced the risk of developing main complications such as severe intellectual disability, hearing-loss and amyloidosis, if treatment is started early on. |
format | Online Article Text |
id | pubmed-5142346 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-51423462016-12-15 Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review Finetti, Martina Omenetti, Alessia Federici, Silvia Caorsi, Roberta Gattorno, Marco Orphanet J Rare Dis Review INTRODUCTION: The Chronic Infantile Neurological Cutaneous and Articular (CINCA, or Neonatal-onset multisystem inflammatory disease NOMID) is a rare autoinflammatory disease identified in 1987 by Prieur et al., typically characterized by the triad of skin rash, arthropathy and central nervous system manifestations. It represents the most severe phenotype of the cryopyrin-associated periodic syndrome (CAPS). CLINICAL DESCRIPTION AND ETIOLOGY: The syndrome is due to autosomal dominant gain of function mutations in NLRP3, which encodes a key component of the innate immunity that regulates the activation and secretion of interleukin (IL)-1β. From the first days of life, patients display an urticarial rash in association with chronic inflammation with a typical facies featured by frontal bossing and saddle back nose. The CNS manifestations include chronic aseptic meningitis leading to brain atrophy, mental delay and sensorineural hearing loss. Chronic polyarthritis and alteration of the growth cartilage also may be present. CINCA/NOMID diagnosis is made clinically, based on the presence of characteristic features. The detection of NLRP3 mutations is diagnostic in 65–70% of cases. Indeed, up to 40% of affected patients are negative for germline NLRP3 mutations and several subjects are carriers of somatic mosaicism. Due to the pivotal role of Cryopyrin in the control of Caspase-1 activation and the massive secretion of active IL-1β observed in cryopyrin-mutated individuals, anti-IL1 treatment represents the standard therapy. CONCLUSION: Prognosis of CINCA/NOMID syndrome has been changed by the availability of anti-IL1 drugs. Nowadays, the use of anti-IL-1 drugs has sensibly reduced the risk of developing main complications such as severe intellectual disability, hearing-loss and amyloidosis, if treatment is started early on. BioMed Central 2016-12-07 /pmc/articles/PMC5142346/ /pubmed/27927236 http://dx.doi.org/10.1186/s13023-016-0542-8 Text en © The Author(s). 2016 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Review Finetti, Martina Omenetti, Alessia Federici, Silvia Caorsi, Roberta Gattorno, Marco Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review |
title | Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review |
title_full | Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review |
title_fullStr | Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review |
title_full_unstemmed | Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review |
title_short | Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review |
title_sort | chronic infantile neurological cutaneous and articular (cinca) syndrome: a review |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142346/ https://www.ncbi.nlm.nih.gov/pubmed/27927236 http://dx.doi.org/10.1186/s13023-016-0542-8 |
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